PTPN11型
努南综合征
先证者
神经节细胞瘤
生殖系
医学
种系突变
表现力
突变
蛋白质酪氨酸磷酸酶
癌症研究
病理
内科学
神经母细胞瘤
生物
遗传学
癌症
基因
结直肠癌
克拉斯
细胞培养
受体
作者
Joel A. Morales‐Rosado,Herchran Singh,Rory J. Olson,Brandon T. Larsen,Megan M. Hager,Eric W. Klee,Radhika Dhamija
摘要
Abstract Noonan syndrome (NS) is an autosomal dominant condition with variable expressivity most commonly due to a germline pathogenic variant in PTPN11 , which encodes the protein tyrosine phosphatase SHP‐2. Gain‐of‐function variants in PTPN11 are known to promote oncogenic behavior in affected tissues. We report the clinical description of a young adult male presenting with relapsing ganglioneuromas, dysmorphic features, cardiac abnormalities, and multiple lentigines, strongly suspicious for NS. Solid tumor testing identified the recurrent pathogenic c.922G>A (p.Asn308Asp) in PTPN11 . Proband and parental blood sampling testing confirmed c.922G>A as a de novo germline alteration. Comprehensive literature review of solid tumors specifically associated to PTPN11 , indicates that this is the first documentation of ganglioneuroma and its clinical recurrence after resection in conjunction with a genetically confirmed NS diagnosis. The findings in our patient further extend the list of neuroblastic and neural crest‐derived neoplasms associated with this condition.
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